JIMD Reports Volume 35
JIMD Reports Volume 35
Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
- 1 recurso en línea
- JIMD reports volume 35 .
Incluye referencias bibliográficas
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability; Abstract; Introduction; Materials and Methods; Molecular Genetic Testing; Biochemical Testing; Imaging; Cognitive testing; EEG; Results; Discussion; Synopsis; Conflicts of Interest; Author Contributions; Compliance with Ethics Guidelines; References; Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants; Abstract; Introduction; Case Reports; Sibling 1; Sibling 2; Materials and Methods; Patient Enrollment; Urine Organic Acid Analysis; Muscle mtDNA Assay Abstract; Introduction; Case Presentation; Past Medical History; Discussion; Conclusion; Contributions of Individual Authors; Guarantor for the Article; Compliance with Ethics Guidelines; Competing Interests; Funding; Ethics; References; Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Details of the Contributions of Individual Authors; References; Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine; Abstract; Introduction; Case Reports DNA Preparation, Exome Sequencing, and Data Analysis; Results; Whole Exome Sequencing; Mitochondrial DNA Depletion Assay; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines; References; Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Childrenś Hospital; Abstract; Introduction; Methods; Results; Discussion; Conclusion; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report... Measurements of the Respiratory Chain Enzymes in Muscle; Genetic Investigations; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References; Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflict of Interests; Consent; Ethics; Authors Ćontributions; Funding; References; The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening; Abstract; Introduction Patient 1; Patient 2; Patient 3; Discussion; Take-Home Message; Authors Ćontribution; Competing Interest Statement; Ethics Statement; References; Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Featu...; Abstract; Introduction; Methods; Measurements of the Respiratory Chain Enzymes in Muscle; Immunoblotting; Genetic Investigations; Case Report and Results; Clinical and Neurological Presentation, Cerebral MRI Findings; Clinical Chemical, Metabolic, and Endocrine Findings
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
3662558335 9783662558331
Metabolismo--Disorders.
RC627.8 / 2017 EB
Incluye referencias bibliográficas
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability; Abstract; Introduction; Materials and Methods; Molecular Genetic Testing; Biochemical Testing; Imaging; Cognitive testing; EEG; Results; Discussion; Synopsis; Conflicts of Interest; Author Contributions; Compliance with Ethics Guidelines; References; Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants; Abstract; Introduction; Case Reports; Sibling 1; Sibling 2; Materials and Methods; Patient Enrollment; Urine Organic Acid Analysis; Muscle mtDNA Assay Abstract; Introduction; Case Presentation; Past Medical History; Discussion; Conclusion; Contributions of Individual Authors; Guarantor for the Article; Compliance with Ethics Guidelines; Competing Interests; Funding; Ethics; References; Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient; Abstract; Compliance with Ethics Guidelines; Conflict of Interest; Details of the Contributions of Individual Authors; References; Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine; Abstract; Introduction; Case Reports DNA Preparation, Exome Sequencing, and Data Analysis; Results; Whole Exome Sequencing; Mitochondrial DNA Depletion Assay; Discussion; Conclusion; Synopsis; Compliance with Ethics Guidelines; References; Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Childrenś Hospital; Abstract; Introduction; Methods; Results; Discussion; Conclusion; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; References; Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report... Measurements of the Respiratory Chain Enzymes in Muscle; Genetic Investigations; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References; Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience; Abstract; Introduction; Materials and Methods; Results; Discussion; Synopsis; Conflict of Interests; Consent; Ethics; Authors Ćontributions; Funding; References; The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening; Abstract; Introduction Patient 1; Patient 2; Patient 3; Discussion; Take-Home Message; Authors Ćontribution; Competing Interest Statement; Ethics Statement; References; Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Featu...; Abstract; Introduction; Methods; Measurements of the Respiratory Chain Enzymes in Muscle; Immunoblotting; Genetic Investigations; Case Report and Results; Clinical and Neurological Presentation, Cerebral MRI Findings; Clinical Chemical, Metabolic, and Endocrine Findings
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
3662558335 9783662558331
Metabolismo--Disorders.
RC627.8 / 2017 EB